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Type: Artigo de periódico
Title: A New Locus For Generalized Epilepsy With Febrile Seizures Plus Maps To Chromosome 2
Author: Lopes-Cendes I.
Scheffer I.E.
Berkovic S.F.
Rousseau M.
Andermann E.
Rouleau G.A.
Abstract: Generalized epilepsy with febrile seizures plus (GEFS+) is a recently recognized but relatively common form of inherited childhood-onset epilepsy with heterogeneous epilepsy phenotypes. We genotyped 41 family members, including 21 affected individuals, to localize the gene causing epilepsy in a large family segregating an autosomal dominant form of GEFS+. A genomewide search examining 197 markers identified linkage of GEFS+ to chromosome 2, on the basis of an initial positive LOD score for marker D2S294 (Z = 4.4, recombination fraction [θ] = 0). A total of 24 markers were tested on chromosome 2q, to define the smallest candidate region for GEFS+. The highest two-point LOD score (Z(max) = 5.29; θ = 0) was obtained with marker D2S324. Critical recombination events mapped the GEFS+ gene to a 29-cM region flanked by markers D2S156 and D2S311, with the idiopathic generalized epilepsy locus thereby assigned to chromosome 2q23-q31. The existence of the heterogeneous epilepsy phenotypes in this kindred suggests that seizure predisposition determined by the GEFS+ gene on chromosome 2q could be modified by other genes and/or by environmental factors, to produce the different seizure types observed.
Rights: fechado
Identifier DOI: 10.1086/302768
Date Issue: 2000
Appears in Collections:Unicamp - Artigos e Outros Documentos

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